Darier's disease
| Classification according to ICD-10 | |
|---|---|
| Q82.8 | Other specified congenital malformations of the skin - dyskeratosis follicularis vegetans (Darier) |
| ICD-10 online (WHO version 2019) | |
When Darier's disease is a hereditary skin disease . It belongs to the very rare congenital syndromes with keratoderma , a cornification disorder ( hyperkeratosis ) affecting the skin .
Synonyms are: dyskeratosis follicularis; Darier's disease; Dyskeratosis follicularis Darier-White; Acrokeratosis verruciformis Hopf; Darier-White disease; Follicular dyskeratosis; Darier follicular dyskeratosis; Keratosis vegetans
The names refer to the first authors of independent first descriptions from 1899 by the French dermatologist Ferdinand-Jean Darier and the American doctor James Clarke White (July 7, 1833 Belfast, Maine, † January 5, 1916, Boston).
It may be a variant of acrokeratosis verruciformis (Hopf syndrome).
distribution
The frequency is given as about 1 in 50,000, the inheritance is autosomal dominant .
root cause
The disease is based on mutations in the ATP2A2 gene at gene location 12q24.11, whose gene product, an ATP -dependent calcium pump , is responsible for distributing calcium in the cytoplasm of the skin cells . There is a disruption in protein production . This leads to impaired differentiation of the skin cells, as a result of which they die.
Clinical appearance
The disease usually occurs in adolescence.
diagnosis
The diagnosis is made clinically on the basis of the papules and confirmed by the histopathological picture. Histopathologically, the following picture emerges: There is an enlargement and coarsening of the papillae of the connective tissue protruding into the epidermis (papillomatosis), which secondary to a thickening lead to a wavy unevenness of the skin surface.
Acanthosis , focal hyperkeratosis , acantholytic dyskeratosis , which means the premature cornification of the individual cells in the form of so-called corps rond (in the stratum spinosum) and grain (in the stratum corneum).
Various main and secondary criteria are used for diagnosis. The main criteria include the typical appearance of the skin, the itching and a detailed personal and family history. In childhood, Darier's disease manifests itself in many cases with very dry skin, which often leads to the diagnosis of neurodermatitis . If in doubt, it is advisable to take a skin sample.
The differential diagnosis should include seborrheic eczema , Hailey-Hailey's disease , striate and verrkous nevi, and warts .
course
The skin symptoms of Darier's disease include redness and swelling, as well as small, rough, crusty reddish papules . These may cause severe itching . Localizations are anterior and posterior sweat , as well as the center of the face and hairy head and the area of the anus . In larger flocks, exposure , sweat or UV light often leads to bacterial superinfections that require antibiotic treatment.
Possible side effects:
- Nail dystrophies ,
- Acrokeratosis verruciformis ,
- " Cobblestone- like " leukoplakia- like changes in the oral mucosa.
Symptoms are made worse by irritation and sweating .
Similar to neurodermatitis , the symptoms appear in bouts of varying duration and severity.
Severity
Darier's disease can occur in different degrees of severity. Lack of sleep, stress, alcohol consumption, but also excessive sunbathing can make the disease worse.
Provocation factors
- Fragrances, dyes and preservatives can worsen the condition of the skin.
- Foods that generally have a bad effect on the skin and the complexion lead to additional stress in Darier's disease.
- In some cases, foods containing calcium cause damage to the skin as they promote the formation of scabs and scabs.
- Ointments with a high fat content such as B. Vaseline and Ultrabas sometimes provoke further deterioration due to heat build-up in acute phases of inflammatory skin.
- Dirt and bacteria often lead to inflammation of the affected areas of the skin.
- Toxins such as nicotine, alcohol or caffeine should generally be avoided.
Treatment with cream
Since Darier's disease can be traced back to a genetic defect, it cannot be cured. Treatment is only aimed at alleviating the symptoms.
- External corticosteroids are used for short-term use in an episode, and antibiotics and antiseptic baths are also used in the case of bacterial superinfection .
- Ointments with different compositions and ingredients that serve as basic care to counteract the dehydration of the skin are helpful. In acute phases, creams with a high water content are perceived as pleasantly cooling.
- In addition, a constant change of active ingredient-based creams and ointments is recommended in order to avoid the skin getting used to it.
- In acute phases of inflammation, which are oozing, zinc ointments and powder are perceived as pleasant, since no new wounds occur with powder due to the lack of skin contact, as is usually the case with ointments.
Medication
Retinoids
Retinoids are drugs and derivatives of vitamin A . They are used externally or internally to treat acne and psoriasis . Some retinoids are harmful to the unborn child and must never be used during pregnancy. Commercially available products are available in capsule form, solutions, and creams and gels. Side effects are with local treatment: skin reddening, itching and burning. The skin's sensitivity to light increases. Appearance of dry skin. If taken internally, liver damage, nosebleeds, joint pain or skin peeling can occur.
In the case of an initial treatment, the skin condition can temporarily worsen after approx. 5 weeks until an improvement occurs.
Acitretin
Acitretin is an active ingredient from the retinoid group used to treat psoriasis and severe cornification disorders of the skin.
Comorbidity
Since Darier's disease is by chance often associated with depressive disorders , one suspects a risk gene for depression that is close to the SERCA gene ( SERCA ).
Individual evidence
- ↑ a b Darier's disease. In: Orphanet (Rare Disease Database).
- ^ W. Pschyrembel, Clinical Dictionary, Verlag Walter de Gruyter, 265th edition (2014) ISBN 3-11-018534-2
- ^ Who named it Darier
- ^ FJ Darier: De la psorospermose folliculaire végétante. Étude anatomo-pathologique d'une affection cutanée non décrite ou comprise dans le groupe des acnés sebacées, cornées, hypertrophiantes, des kératoses (ichtyoses) folliculaires. In: Annales de Dermatologie et de Syphiligraphie (Paris), 1889 Vol. 10, pp. 597-612.
- ^ Who named it White
- ↑ JC White: A case of keratosis (ichtyosis) follicularis. In: Journal of Cutaneous and Genitourinary Diseases (Chicago) 1889, Vol. 7, pp. 201-209
- ↑ Darier-White syndrome
- ↑ Encyclopedia Dermatology Akrokeratosis verruciformis
- ↑ Darier disease. In: Online Mendelian Inheritance in Man . (English)
